This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the development of complex skin disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially restricted within the distal inner root sheath of the h... See more...

Aliases for TCHHL1 Gene

Aliases for TCHHL1 Gene

  • Trichohyalin Like 1 2 3 5
  • S100 Calcium-Binding Protein A17 3 4
  • Trichohyalin-Like Protein 1 3 4
  • Basalin 3 4
  • S100A17 3 4
  • THHL1 3 4
  • Intermediate Filament-Associated Protein 3
  • S100 Calcium Binding Protein A17 2
  • Trichohyalin-Like 1 2
  • Protein S100-A17 4

External Ids for TCHHL1 Gene

Previous HGNC Symbols for TCHHL1 Gene

  • S100A17
  • THHL1

Previous GeneCards Identifiers for TCHHL1 Gene

  • GC01M148858
  • GC01M150323
  • GC01M152056
  • GC01M123434

Summaries for TCHHL1 Gene

Entrez Gene Summary for TCHHL1 Gene

  • This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the development of complex skin disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially restricted within the distal inner root sheath of the hair follicle. It thus may have an important role in hair morphogenesis. [provided by RefSeq, Aug 2013]

GeneCards Summary for TCHHL1 Gene

TCHHL1 (Trichohyalin Like 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is MDN1.

Additional gene information for TCHHL1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TCHHL1 Gene

Genomics for TCHHL1 Gene

GeneHancer (GH) Regulatory Elements for TCHHL1 Gene

Promoters and enhancers for TCHHL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J152089 Enhancer 0.6 ENCODE 750.6 -0.5 -456 0.2 SREBF1 TCF7L2 COPS2 MNT CTBP1 PKNOX1 DPF2 CUX1 MAZ FOS TCHHL1 piR-40218
GH01J152090 Promoter 0.3 EPDnew 750.6 0.0 -20 0.1 TCHHL1 piR-40218
GH01J152143 Enhancer 0.6 FANTOM5 Ensembl 10.7 -54.6 -54637 0.6 RUNX3 BATF ATF2 piR-48049-017 HRNR ENSG00000226716 TCHH PUDPP2 TCHHL1 S100A11 FLG ENSG00000229021 LCE3A
GH01J151822 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 2.1 +261.4 261442 12 LCORL FOXA1 MLX RBPJ POLR2A HLF MNT MTA3 NFIB ZNF148 RORC AB372574 ZNF687 PIP5K1A SETDB1 LYSMD1 LINGO4 FLG-AS1 THEM4 ENSG00000269621
GH01J152146 Enhancer 0.3 Ensembl 10.3 -56.9 -56937 0.4 MAFK MAFF piR-48049-017 ENSG00000226716 TCHH PUDPP2 S100A11 TCHHL1 HRNR RPTN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TCHHL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TCHHL1 gene promoter:
  • aMEF-2
  • AREB6
  • C/EBPalpha
  • HSF1 (long)
  • HSF1short
  • Ik-1
  • MEF-2A
  • Nkx3-1 v4

Genomic Locations for TCHHL1 Gene

Genomic Locations for TCHHL1 Gene
chr1:152,084,141-152,089,064
(GRCh38/hg38)
Size:
4,924 bases
Orientation:
Minus strand
chr1:152,056,620-152,061,540
(GRCh37/hg19)
Size:
4,921 bases
Orientation:
Minus strand

Genomic View for TCHHL1 Gene

Genes around TCHHL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCHHL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCHHL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCHHL1 Gene

Proteins for TCHHL1 Gene

  • Protein details for TCHHL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5QJ38-TCHL1_HUMAN
    Recommended name:
    Trichohyalin-like protein 1
    Protein Accession:
    Q5QJ38
    Secondary Accessions:
    • B2RPK8
    • Q5VTJ9

    Protein attributes for TCHHL1 Gene

    Size:
    904 amino acids
    Molecular mass:
    99275 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TCHHL1 Gene

Post-translational modifications for TCHHL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TCHHL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TCHHL1 Gene

Domains & Families for TCHHL1 Gene

Gene Families for TCHHL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TCHHL1 Gene

Suggested Antigen Peptide Sequences for TCHHL1 Gene

GenScript: Design optimal peptide antigens:
  • S100 calcium-binding protein A17 (TCHL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5QJ38

UniProtKB/Swiss-Prot:

TCHL1_HUMAN :
  • Belongs to the S-100 family.
Family:
  • Belongs to the S-100 family.
genes like me logo Genes that share domains with TCHHL1: view

Function for TCHHL1 Gene

Phenotypes From GWAS Catalog for TCHHL1 Gene

Gene Ontology (GO) - Molecular Function for TCHHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046914 transition metal ion binding IEA --
genes like me logo Genes that share ontologies with TCHHL1: view
genes like me logo Genes that share phenotypes with TCHHL1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCHHL1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TCHHL1 Gene

Localization for TCHHL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TCHHL1 gene
Compartment Confidence
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleoli (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TCHHL1 Gene

Pathways & Interactions for TCHHL1 Gene

PathCards logo

SuperPathways for TCHHL1 Gene

No Data Available

Interacting Proteins for TCHHL1 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000357796 Q5QJ38-TCHL1_HUMAN for TCHHL1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for TCHHL1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TCHHL1 Gene

Drugs & Compounds for TCHHL1 Gene

No Compound Related Data Available

Transcripts for TCHHL1 Gene

mRNA/cDNA for TCHHL1 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCHHL1

Alternative Splicing Database (ASD) splice patterns (SP) for TCHHL1 Gene

No ASD Table

Relevant External Links for TCHHL1 Gene

GeneLoc Exon Structure for
TCHHL1
ECgene alternative splicing isoforms for
TCHHL1

Expression for TCHHL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TCHHL1 Gene

mRNA differential expression in normal tissues according to GTEx for TCHHL1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x48.1).

Protein differential expression in normal tissues from HIPED for TCHHL1 Gene

This gene is overexpressed in Hair follicle (68.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TCHHL1 Gene



Protein tissue co-expression partners for TCHHL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TCHHL1 Gene:

TCHHL1

SOURCE GeneReport for Unigene cluster for TCHHL1 Gene:

Hs.546477

Evidence on tissue expression from TISSUES for TCHHL1 Gene

  • Skin(4.1)
genes like me logo Genes that share expression patterns with TCHHL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TCHHL1 Gene

Orthologs for TCHHL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TCHHL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TCHHL1 33 32
  • 99.19 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TCHHL1 33 32
  • 76.99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TCHHL1 33 32
  • 76.48 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tchhl1 17 33 32
  • 71.11 (n)
oppossum
(Monodelphis domestica)
Mammalia TCHHL1 33
  • 25 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRNN 33
  • 18 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 13 (a)
OneToMany
Species where no ortholog for TCHHL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TCHHL1 Gene

ENSEMBL:
Gene Tree for TCHHL1 (if available)
TreeFam:
Gene Tree for TCHHL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TCHHL1: view image

Paralogs for TCHHL1 Gene

Paralogs for TCHHL1 Gene

(1) SIMAP similar genes for TCHHL1 Gene using alignment to 2 proteins:

  • TCHL1_HUMAN
  • L8E6Z9_HUMAN
genes like me logo Genes that share paralogs with TCHHL1: view

Variants for TCHHL1 Gene

Sequence variations from dbSNP and Humsavar for TCHHL1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000788166 -- 152,089,580(-) G/A/T upstream_transcript_variant
rs1000828334 -- 152,087,027(-) T/C coding_sequence_variant, missense_variant
rs1000971107 -- 152,089,352(-) A/G upstream_transcript_variant
rs1001676764 -- 152,090,551(-) G/T upstream_transcript_variant
rs1001796306 -- 152,090,476(-) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TCHHL1 Gene

Variant ID Type Subtype PubMed ID
nsv1007097 CNV gain 25217958
nsv2866 CNV insertion 18451855
nsv547853 CNV gain 21841781

Variation tolerance for TCHHL1 Gene

Residual Variation Intolerance Score: 67.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.68; 72.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TCHHL1 Gene

Human Gene Mutation Database (HGMD)
TCHHL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCHHL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCHHL1 Gene

Disorders for TCHHL1 Gene

Additional Disease Information for TCHHL1

No disorders were found for TCHHL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TCHHL1 Gene

Publications for TCHHL1 Gene

  1. Web-based, participant-driven studies yield novel genetic associations for common traits. (PMID: 20585627) Eriksson N … Mountain J (PLoS genetics 2010) 3 43 56
  2. Trichohyalin-like 1 protein, a member of fused S100 proteins, is expressed in normal and pathologic human skin. (PMID: 23376073) Yamakoshi T … Shimizu T (Biochemical and biophysical research communications 2013) 3 56
  3. A census of human soluble protein complexes. (PMID: 22939629) Havugimana PC … Emili A (Cell 2012) 3 56
  4. Identification of trichohyalin-like 1, an s100 fused-type protein selectively expressed in hair follicles. (PMID: 21614011) Wu Z … Schröder JM (The Journal of investigative dermatology 2011) 3 56
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 56

Products for TCHHL1 Gene

Sources for TCHHL1 Gene